PAWEL STANKIEWICZ to Phenotype
This is a "connection" page, showing publications PAWEL STANKIEWICZ has written about Phenotype.
Connection Strength
2.779
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Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity. Clin Genet. 2019 10; 96(4):366-370.
Score: 0.301
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Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome. Clin Genet. 2019 04; 95(4):534-536.
Score: 0.290
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Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs. Am J Med Genet A. 2016 09; 170(9):2440-4.
Score: 0.244
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TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly. Am J Med Genet A. 2011 Jun; 155A(6):1442-7.
Score: 0.171
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A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes. Nat Genet. 2009 Dec; 41(12):1269-71.
Score: 0.154
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Complex Genomic Rearrangement Involving the TBX4 Promoter Manifesting With Variable Expressivity in a Five-Generation Family. Hum Mutat. 2026; 2026:7278477.
Score: 0.123
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Inherited TBX4 frameshifting variants predicted to escape nonsense mediated decay in two families with variable phenotypes, including lethal lung developmental disorders. Hum Genomics. 2026 04 30; 20(1).
Score: 0.120
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Unraveling the Molecular and Clinical Consequences of an Intragenic TRIP12 Duplication Using Genomic and RNA Analyses. Am J Med Genet A. 2025 07; 197(7):e64036.
Score: 0.111
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Epilepsy as a Novel Phenotype of BPTF-Related Disorders. Pediatr Neurol. 2024 Sep; 158:17-25.
Score: 0.106
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SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia. Hum Genet. 2023 Jun; 142(6):721-733.
Score: 0.097
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Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype. Clin Genet. 2001 Nov; 60(5):336-44.
Score: 0.088
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Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. Am J Hum Genet. 2017 Oct 05; 101(4):503-515.
Score: 0.066
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The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications. J Autism Dev Disord. 2017 Mar; 47(3):549-562.
Score: 0.064
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Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability. J Appl Genet. 2014 Feb; 55(1):125-44.
Score: 0.051
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Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions. Eur J Hum Genet. 2012 Dec; 20(12):1240-7.
Score: 0.046
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Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid. Am J Med Genet B Neuropsychiatr Genet. 2012 Mar; 159B(2):236-42.
Score: 0.045
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Microdeletion and microduplication syndromes. Methods Mol Biol. 2012; 838:29-75.
Score: 0.045
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Phenotypic manifestations of copy number variation in chromosome 16p13.11. Eur J Hum Genet. 2011 Mar; 19(3):280-6.
Score: 0.041
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Structural variation in the human genome and its role in disease. Annu Rev Med. 2010; 61:437-55.
Score: 0.039
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Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. Hum Genet. 2009 Oct; 126(4):589-602.
Score: 0.037
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Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet. 2007 Apr; 80(4):633-49.
Score: 0.032
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Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation. Am J Med Genet A. 2006 Mar 01; 140(5):442-52.
Score: 0.030
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Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]. Genet Med. 2003 Nov-Dec; 5(6):430-4.
Score: 0.025
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Molecular Function and Contribution of TBX4 in Development and Disease. Am J Respir Crit Care Med. 2023 04 01; 207(7):855-864.
Score: 0.024
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Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus. Am J Med Genet. 2001 Sep 15; 103(1):56-62.
Score: 0.022
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Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies. Am J Med Genet A. 2021 05; 185(5):1366-1378.
Score: 0.021
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Clinical genomics and contextualizing genome variation in the diagnostic laboratory. Expert Rev Mol Diagn. 2020 10; 20(10):995-1002.
Score: 0.020
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Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype. Hum Genet. 2019 Dec; 138(11-12):1301-1311.
Score: 0.019
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Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome. Genome Med. 2019 04 23; 11(1):25.
Score: 0.019
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Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants. Genet Med. 2019 04; 21(4):816-825.
Score: 0.018
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Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing. Eur J Hum Genet. 2017 01; 25(1):73-78.
Score: 0.016
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CAV3 mutation in a patient with transient hyperCKemia and myalgia. Neurol Neurochir Pol. 2016 Nov - Dec; 50(6):468-473.
Score: 0.015
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Variable phenotypic presentation of a novel FOXF1 missense mutation in a single family. Pediatr Pulmonol. 2016 09; 51(9):921-7.
Score: 0.015
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Co-segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B. Am J Med Genet A. 2015 Feb; 167A(2):445-9.
Score: 0.014
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Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27. Eur J Hum Genet. 2015 Jan; 23(1):54-60.
Score: 0.013
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Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy. PLoS Genet. 2013; 9(9):e1003797.
Score: 0.013
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Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays. Hum Mutat. 2013 Oct; 34(10):1415-23.
Score: 0.012
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Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure. Am J Med Genet A. 2013 Oct; 161A(10):2487-94.
Score: 0.012
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Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay. Eur J Hum Genet. 2013 Nov; 21(11):1304-7.
Score: 0.012
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Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events. J Med Genet. 2012 Nov; 49(11):681-8.
Score: 0.012
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Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions. J Med Genet. 2011 Dec; 48(12):840-50.
Score: 0.011
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Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Hum Mol Genet. 2011 May 15; 20(10):1975-88.
Score: 0.011
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The phenotype of recurrent 10q22q23 deletions and duplications. Eur J Hum Genet. 2011 Apr; 19(4):400-8.
Score: 0.010
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Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes. Genome Res. 2011 Jan; 21(1):33-46.
Score: 0.010
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Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL. Eur J Med Genet. 2010 Nov-Dec; 53(6):378-82.
Score: 0.010
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Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med. 2010 Apr 01; 362(13):1181-91.
Score: 0.010
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Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. Am J Hum Genet. 2010 Mar 12; 86(3):454-61.
Score: 0.010
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22q13.3 deletion syndrome: clinical and molecular analysis using array CGH. Am J Med Genet A. 2010 Mar; 152A(3):573-81.
Score: 0.010
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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. 2010 May; 47(5):332-41.
Score: 0.010
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Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. Eur J Hum Genet. 2010 Mar; 18(3):278-84.
Score: 0.010
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A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion. Eur J Hum Genet. 2010 Feb; 18(2):258-61.
Score: 0.010
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Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. Neurogenetics. 2009 Oct; 10(4):363-9.
Score: 0.009
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Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS One. 2007 Mar 28; 2(3):e327.
Score: 0.008
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Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients. J Appl Genet. 2007; 48(2):167-75.
Score: 0.008
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Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome. Am J Med Genet A. 2006 Jul 15; 140(14):1531-41.
Score: 0.008
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Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33)dup(1)(p36.33p36.22) with variable phenotype. Am J Med Genet A. 2005 Dec 01; 139A(2):136-40.
Score: 0.007
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Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications. Am J Med Genet A. 2005 Oct 01; 138A(2):175-80.
Score: 0.007
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Small marker chromosomes in two patients with segmental aneusomy for proximal 17p. Hum Genet. 2004 Jun; 115(1):1-7.
Score: 0.007
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Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat Genet. 2002 Feb; 30(2):215-20.
Score: 0.006
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Periaxin mutations cause recessive Dejerine-Sottas neuropathy. Am J Hum Genet. 2001 Feb; 68(2):325-33.
Score: 0.005